rs141945265
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs141945265(C;C) |
Make rs141945265(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 8 |
Position | 132632819 |
Gene | LRRC6 |
is a | snp |
is | mentioned by |
dbSNP | rs141945265 |
dbSNP (classic) | rs141945265 |
ClinGen | rs141945265 |
ebi | rs141945265 |
HLI | rs141945265 |
Exac | rs141945265 |
Gnomad | rs141945265 |
Varsome | rs141945265 |
LitVar | rs141945265 |
Map | rs141945265 |
PheGenI | rs141945265 |
Biobank | rs141945265 |
1000 genomes | rs141945265 |
hgdp | rs141945265 |
ensembl | rs141945265 |
geneview | rs141945265 |
scholar | rs141945265 |
rs141945265 | |
pharmgkb | rs141945265 |
gwascentral | rs141945265 |
openSNP | rs141945265 |
23andMe | rs141945265 |
SNPshot | rs141945265 |
SNPdbe | rs141945265 |
MSV3d | rs141945265 |
GWAS Ctlg | rs141945265 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs141945265(A;A) rs141945265(C;C) |
Alt | rs141945265(A;A) rs141945265(C;C) |
Reference | Rs141945265(G;G) |
Significance | Pathogenic |
Disease | Ciliary dyskinesia |
Variation | info |
Gene | LRRC6 |
CLNDBN | Ciliary dyskinesia, primary, 19 |
Reversed | 0 |
HGVS | NC_000008.10:g.133645065G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000033017.5, |